Results of cochlear implantation in two children with mutations in the OTOF gene
Results of cochlear implantation in two children with mutations in the OTOF gene
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两名 OTOF 基因突变儿童的人工耳蜗植入结果
DOI：
10.1016/j.ijporl.2005.09.006
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发表时间：
2006-04-01
影响因子：
1.5
通讯作者：
Loundon, N
中科院分区：
文献类型：
--
作者：
Rouillon, I;Marcolla, A;Loundon, N
目的：探讨OTOF基因突变致聋患者人工耳蜗植入的效果。这种形式的耳聋的特征是存在瞬态诱发耳声发射（TEOAE）。在保留TEOAE的重度耳聋病例中，应考虑两种主要病因：听神经病（耳蜗后病变）或耳蜗内病变。这是必要的，以区分这两个实体方面的治疗和screening.Patients：我们报告两个孩子谁提出了深刻的语前聋，证实了没有可检测的反应，听觉诱发电位（AEP），与双边TEOAE的存在。基因检测显示OTOF突变，证实了DFNB9耳聋。两名患者均已成功植入（随访时间分别为18个月和36个月）。（口语产出、封闭式和开放式词语和句子列表、有意义听觉整合量表）、听力评估植入前和植入后的TEOAE，AEP和神经反应遥测（NRT）。两名患者在植入后均表现出良好的临床反应和电生理测试质量，表明听神经功能良好。这证实了耳蜗内起源的DFNB9，并表明，这些突变OTOF导致功能atteration的内毛cells.Conclusion：在没有神经系统综合征的情况下，缺乏AEP和阳性TEOAE的组合应导致在OTOF突变的遗传筛查，以进行适当的管理。(c)2005爱思唯尔爱尔兰有限公司保留所有权利。
Objective: The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence of transient evoked otoacoustic emissions (TEOAE). In cases of profound deafness with preserved TEOAE, two main etiologies should be considered: either an auditory neuropathy (a retrocochlear lesion) or an endocochlear lesion. It is essential to differentiate these two entities with regards to therapy and screening.Patients: We report two children who presented with profound prelingual deafness, confirmed by the absence of detectable responses to auditory evoked potentials (AEP), associated with the presence of bilateral TEOAE. Genetic testing revealed mutations in OTOF, confirming DFNB9 deafness. Both patients have been successfully implanted (with a follow-up of 18 and 36 months, respectively).Main outcome measures: Clinical (oral production, closed and open-set words and sentences list, meaningful auditory integration scale), audiometric evaluation (TEOAE, AEP) before and after implantation, and neural response telemetry (NRT).Results: Both patients present a good quality of clinical responses and electrophysiollogical tests after implantation, indicating satisfactory functioning of the auditory nerve. This confirms the endocochlear origin of DFNB9 and suggests that these mutations in OTOF lead to functional atteration of inner hair cells.Conclusion: In the absence of a context of neurological syndrome, the combination of absent AEP and positive TEOAE should lead to a genetic screening for mutations in OTOF, in order to undertake the appropriate management. (c) 2005 Elsevier Ireland Ltd. All rights reserved.